Table 4.
Geographic Origin (No. of Patients) | Nucleotide Change | Predicted Consequencea | Exon |
Jordan (2) | C193T | Q65X | 3 |
Italy (1) | 373delT | I124fs | 3 |
Pakistan (1) | G614A | W205X | 5 |
Panama (26) | C811T | R271X | 6 |
United States (2) | C811T | R271X | 6 |
Oman (2) | C811T | R271X | 6 |
Britain (1) | C862T | R288X | 7 |
Turkey (1) | C862T | R288X | 7 |
Japan (2) | 1089delG or IVS8+1delG (splice donor) | L363fs or IVS8+1delG (splice donor) | 8 |